Variant report

Variant	rs12478233
Chromosome Location	chr2:53325179-53325180
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11899579	0.94[EUR][1000 genomes]
rs12476215	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1424964	0.93[EUR][1000 genomes]
rs1424966	0.93[EUR][1000 genomes]
rs17044111	0.90[ASN][1000 genomes]
rs17189168	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17189182	0.93[EUR][1000 genomes]
rs17189189	0.93[EUR][1000 genomes]
rs17267721	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17267741	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1838825	0.90[ASN][1000 genomes]
rs3861569	0.93[EUR][1000 genomes]
rs55635428	0.92[EUR][1000 genomes]
rs56208689	0.92[EUR][1000 genomes]
rs60943259	0.88[ASN][1000 genomes]
rs6752368	1.00[ASN][1000 genomes]
rs73933945	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7608261	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012463	chr2:53187151-53377118	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv874141	chr2:53263644-53352630	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53323400-53326200	Enhancers	Fetal Brain Male	brain
2	chr2:53323800-53325200	Weak transcription	Fetal Kidney	kidney
3	chr2:53324800-53325200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:53325000-53327000	Enhancers	Fetal Intestine Small	intestine

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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